Corticosterone methyloxidase type 1 deficiency

Overview

Type of disease: Rare conditions

Corticosterone methyloxidase type 1 deficiency (CMO 1 deficiency) is an inherited disease affecting newborn babies. CMO 1 deficiency causes too much sodium (salt) and not enough potassium to be released in the urine. This leads to high levels of potassium, low levels of sodium, and high levels of acid, in the blood. These imbalances can cause nausea, vomiting, dehydration, low blood pressure, tiredness, muscle weakness, and delayed growth. They can also cause seizures or coma in more severe cases.

CMO 1 deficiency can be life threatening in infancy, but those who survive infancy often lead normal adult lives. Symptoms often become milder or disappear in adulthood. CMO 1 deficiency is most common in the Amish population of Lancaster, Pennsylvania.

CMO 1 deficiency is a genetic condition caused by a mutation (change) in the CYP11B2 gene. We inherit our genes in pairs, one from each parent typically. CMO 1 deficiency is inherited in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of the condition, each child has a one in four chance (25%) of having the disease.

Diagnosis of this condition can be made by urine tests, blood tests, and through looking at clinical symptoms. If a family member has been diagnosed with corticosterone methyloxidase type 1 deficiency, talk to your doctor about the most current treatment options. Support groups are also a good source of information.

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